R is for Rare

This week's interview is with Alexis Rodriguez, a father of 3, Coca-Cola employee, sound engineer, support group founder, and rare disease patient! (Whew, this man is QUALIFIED!) Alexis has a rare disease called myasthenia gravis (MG), which is a neuromuscular, autoimmune response that attacks nerve impulses on their way to the muscles. This can lead to generalized symptoms, primarily ocular symptoms, or such severe miscommunication between the nervous and muscular systems that a patient is unable to breathe independently.  Alexis, after being diagnoses 24 years ago, is so well-versed in MG knowledge and advocacy that calling him an expert is an UNDERSTATEMENT! Since he was diagnosed before the amazing thing we know as Google was founded, he quite literally had to hit the books and learn everything there is to know about MG. He founded a support group for MG patients in Atlanta, where he is from, and has received many accolades doing so, including having the largest MG support group in the state of Georgia. Alexis and I discuss what fatherhood looks like with a rare disease, how much of a game-changer accommodations can be, the reality of geographical advantage when finding specialists, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! If you like what you hear, leave a kind rate and review! Follow me on Instagram - @risforrarepodcast Myasthenia Gravis Foundation of America (MGFA) - https://myasthenia.org Myasthenia Gravis Support Group for Atlanta, GA - http://www.mggeorgia.org Alexis Rodriguez's feature in The Gainesville Times - https://www.gainesvilletimes.com/life/life-top-stories/buford-man-raises-awareness-about-rare-disorder/ Alexis and his wife on Patient Worthy - https://patientworthy.com/2017/05/11/caregiver-mg-etc/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This episode features rare disease patient, behavioral health worker, and striving PhD recipient Emily Parks! Based out of Washington, D.C., Emily was diagnosed with myopathic intestinal pseudo-obstruction at a very young age. This rare genetic disorder affects the development of smooth muscle tissue in the intestines, which requires patients to rely on treatments such as PN, or even intestinal transplants. Emily received her intestinal transplant in December of 2020, and has been off of PN since. She founded POP! (stands for "Pissed Off Patients") as a way to create a supportive and educational platform for those who have or think they might have medical PTSD (post-traumatic stress disorder). We discuss her transplant story, what it's like living with a rare disease in D.C. vs. Boston, ballroom dancing, and much more! POP! website - https://popmedicalptsd.org Follow POP! on Instagram - https://www.instagram.com/pop_medicalptsd/?hl=en POP! Focus group on Facebook - https://www.facebook.com/groups/medicalptsdfocusgroup If you like what you hear, PLEASE leave a rate and review on Apple and Spotify! And subscribe to R is for Rare wherever you get your podcasts! Follow R is for Rare on Instagram - @risforrarepodcast --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This episode is being released today in honor of Cystinosis Awareness Day today! Today's *second* episode features Ashley Abedini, owner of a social media and food marketing business, who has cystinosis. Cystinosis is a rare genetic disorder that affects a patient's metabolic processes, and can especially target the kidneys and muscles. It is a condition that leads to an overproduction of the amino acid cystine. Both Ashley and her older sister have this condition, and this condition is recessive. If a condition is recessive, then both parents must be carriers of the gene to pass it down to future generations of children. In today's episode, Ashley and I discuss the uniqueness and importance of sisterhood, what awareness means to Ashley, how fascinated we are in social media's ways of educating the public about disabilities, the Affordable Care Act, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And, if you love what you're hearing, LET ME KNOW by leaving a review!! Follow me on Instagram - @risforrarepodcast --- Cystinosis Research Network website - https://cystinosis.org Follow Cystinosis Research Network on Instagram - https://www.instagram.com/cystinosisresearchnetwork/ Follow Cystinosis Research Network on Facebook - https://www.facebook.com/CystinosisResearch Follow Cystinosis Research Network on Twitter - https://twitter.com/CystinosisCRN Subscribe to Cystinosis Research Network on YouTube - https://www.youtube.com/channel/UC3BCCVrDmY6M7ZKfUeBmOYQ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

In today's episode, I'm talking with Dr. Howard Berman, the Chief Executive Officer of Coya Therapeutics, which focuses on therapies and treatments of conditions linked to T-regulatory cells ("T-reg cells"). Right now, his team is in Phase 2B of a clinical trial for a treatment that would dramatically help patients suffering from ALS (Lou Gehrig's Disease). Howard and I discuss what on earth T-reg cells are, what he hopes to accomplish in his job at Coya, what's next for the company, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you listen to podcasts! And, if you LOVE the show, be sure to leave a review!! Follow me on Instagram - @risforrarepodcast --- More about Dr. Howard - With over 18 years of entrepreneurial and industry experience, Dr. Berman has leveraged his past working at the interplay of science and business to bring multiple oncology drugs and therapies to market. His past achievements with AbbVie, Novartis, Eli Lilly, and MorphoSys have prepared him to lead Coya Therapeutics. Coya Therapeutics online -- https://www.coyatherapeutics.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Hello everyone! Long time, no see! It's been three months since my last episodes, but I have this + two new episodes coming out today. That and some restructuring are all included in this short 5 minute R is for Rare Update episode!! Follow me on Instagram - @risforrarepodcast Make sure you are subscribed to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's episode is a very exciting interview with Chris Peetz, CEO of Mirum Pharmaceuticals! Mirum helps create drugs and treatments for rare liver conditions, including Alagille Syndrome, progressive familial intrahepatic cholestasis (PFIC) and biliary atresia. Mirum just had an exciting breakthrough with the approval of their drug LIVMARLI, which treats the chronic itch that many ALGS patients suffer from. Chris and I talked a lot about LIVMARLI and where Mirum is taking this success, the logistics of drug approval overseas, how Chris started at Mirum, and much much more! ------- A little bit more about Chris Peetz: Chris Peetz is a co-founder of Mirum and serves as president and chief executive officer. Chris has been an entrepreneur-in-residence at Frazier Healthcare Partners since May 2017. Prior to joining Mirum, Chris served as the chief executive officer of Flashlight Therapeutics, Inc. From May 2014 to December 2016, he served as chief financial officer and head of corporate development at Tobira, which was acquired by Allergan plc, in November 2016. Prior to joining Tobira, Chris served as vice president, finance and corporate development of Jennerex Biotherapeutics. Prior to Jennerex, Chris held various positions at Onyx Pharmaceuticals, Inc. (now Amgen Inc.), including corporate strategy, marketing, product lifecycle management, and financial planning. Prior to Onyx, Chris provided merger and acquisition advisory services at LaSalle Corporate Finance, a part of ABN AMRO, and held positions at Abgenix Inc. and Solazyme Inc. He also serves as a member of the board of directors of Alpine Immune Sciences, Inc., a public immunotherapy company, since April 2018. Chris received an M.B.A. from Stanford Graduate School of Business and a B.S.B.A. in Finance, International Business and French from Washington University in St. Louis. ------- Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Follow me on Instagram -- https://www.instagram.com/risforrarepodcast/?hl=en Questions? Want to be a guest on the podcast? Email me: risforrarepodcast@gmail.com  --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

After a few month hiatus (due to the craziness of senior year), this week's episode is a new and very exciting rare disease podcast crossover episode! I was featured on The Rare Disorder Podcast back in September, and this is my interview with Shivani for R is for Rare! Shivani Vyas is a high school student, and the Founder and Host of The Rare Disorder Podcast, a podcast dedicated to spreading awareness for rare diseases and elevating the voices of those affected by them. Her personal connection to the community traces back to her grandmother, who was affected by a rare pancreatic cancer. Shivani started The Rare Disorder Podcast in March 2020, and today, she cross-podcasts, speaks at conferences, involves herself in research, and advocates for legislation through Young Adults for RDLA (Rare Disease Legislative Advocates) to pay tribute to her grandmother...a true rising star in our community. Outside of school, Shivani loves to spend time with friends, hike, explore the outdoors, and volunteer in her community. She hopes to study public health, public policy, and/or neuroscience in college next year. Shivani and I talk about location and rare disease treatments, how Instagram can be a unifying force, how she got into rare disease advocacy, and much much more! SUBSCRIBE to R is For Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast ! Shivani's Links: Listen to The Rare Disorder Podcast on Spotify: https://open.spotify.com/show/1rNodLuZ2cgUlAw77rYWJN?si=Kdy3Uyy_SRKDYKjxKXfOBw&dl_branch=1 Follow The Rare Disorder Podcast on Instagram: http://instagram.com/therdpodcast Check out other platforms & initiatives: https://linktr.ee/theraredisorderpodcast Follow Shivani on Instagram: https://www.instagram.com/shivivyy/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with Megan Freeman, a greeting card creator and rare disease advocate! She has a very rare chromosomal disorder called 2q37 Deletion Syndrome, which causes delays in growth and development. For Megan, she didn't experience puberty until her late teens; she is also 1 of around 150 people with this disease. Megan and I discuss mental health as a rare disease patient, dating with a rare disease, all things advocacy, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, Overcast, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast for more rare disease and disability content! Follow Megan Freeman on Instagram - @cardc.urator --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with Brenna Jones, who is a bookworm, Instagrammer, and teenage rare disease and disability advocate! She has many conditions, but the main rare disease we focus on throughout the episode is Median Arcuate Ligament Syndrome, or MALS. Brenna also has hypermobile Ehlers-Danlos Syndomre, POTS, New Daily Persistent Headache (NDPH), May-Thurner Syndrome, and Thoracic outlet syndrome. MALS is a rare disease that affects the celiac artery, which in turn causes GI and digestive issues. Brenna and I talk about academic accommodations with rare diseases/disabilities, comparison, vaccines, books and TV shows, and much more!! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And let me know what you think of the podcast by leaving a review (it's free)! Follow me on Instagram - https://www.instagram.com/risforrarepodcast/ Follow Brenna on Instagram - https://www.instagram.com/chronicallybrenna/ Brenna's Beacons page - https://beacons.page/chronicallybrenna/ Follow Brenna on TikTok - https://www.tiktok.com/@chronicallybrenna? Follow Brenna on Twitter - https://twitter.com/chronicallybren/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

***TW: Joey very briefly discusses suicide in the second half of the episode. Nothing graphic, but it is brought up*** This week's interview is with Joey Suchanek (@joeysooch on Instagram), who is an aspiring influencer with a very rare, genetic disorder called FOP; FOP stands for Fibrodysplasia Ossificans Progressiva. FOP is a rare disease in which a person's muscles, tendons and ligaments turn into bone via flares. Joey and I discuss what makes the rare disease community unique, various ways to view beauty standards in social media, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast! Joey Suchanek on Instagram -- @joeysooch Joey's YouTube - https://www.youtube.com/channel/UCjTeVF_oFCSJSslY9MkXPMQ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with Daniel DeFabio, whose son had Menkes Syndrome (aka Kinky Hair Syndrome). Menkes is a genetic disorder that affects the body's metabolism of copper, which can impact basic functions and life span as well. Daniel works at Global Genes in community engagement, and helped create The Disorder Channel and Disorder: The Rare Disease Film Festival. He and I discussed regrets with parenting, how his son's life was different because of Menkes, the impact of The Rare Disease Film Festival, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast! The Disorder Channel is free on Roku and Fire TV devices. www.thedisorderchannel.com For more on Global Genes programs and events: www.globalgenes.org Rare Disease Film Festival Website - https://www.rarediseasefilmfestival.com/ Follow Daniel DeFabio on Facebook - https://www.facebook.com/rarediseasefilmfestival Follow Daniel DeFabio on Instagram - https://www.instagram.com/disorderrarediseasefilms/ Disorder: The Rare Disease Film Festival on Linkedin - https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with another INTERNATIONAL guest, Alexa Wallin! She is from Winnipeg, Canada, and has Cystic Fibrosis (CF), a rare and genetic condition that affects the respiratory and digestive systems. Alexa has received a lung transplant (and suffered a stroke during the transplant), and she also runs an Instagram where she shares educational content AND her story! Alexa and I discuss family planning w/ a genetic disease, how rare disease life is different as a Canadian, and much more! Be sure to subscribe to R is for Rare on Spotify or wherever you get your podcasts, and be sure to follow me on Instagram @risforarepodcast! Follow Alexa on Instagram - @chronic.insights --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with another narcolepsy patient, Lindsey Kizer! Her story is unique because of how long it took to find a correct diagnosis as well as the fact that she was diagnosed well into her adult life. Because of her diagnostic experience, Lindsey advocates and spreads awareness so that nobody else has to live through years of uncertainty. Lindsey and I talk about the quirks of narcolepsy, how other conditions affect her sleepiness, the importance of routine, and much more!! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast ! Lindsey Kizer on Instagram Lindsey Kizer on Twitter Lindsey Kizer on Facebook Lindsey's Profile on WEGO Health --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with yet another CLOVES Syndrome patient, Lindsey Johnson Edwards! CLOVES was actually her second diagnosis (which we get into), but CLOVES has not stopped her from achieving her goals! She is currently a student at Dallas Theological Seminary, and is interested in the theology of suffering and flourishing. She and I talk about how faith and medicine intertwine, the various terms disabled people can use for their identity, Medicaid, and much much more!  Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts, and leave a review letting me know your thoughts! Follow me on Instagram - @risforrarepodcast Follow Lindsey on Instagram - @edwards_linds Disability Language Style Guide from the National Center on Disability and Journalism Visit Lindsey's Personal Website Lindsey's AllStripes Ambassador Story --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This bonus episode is addressing a recent clue on the game show Jeopardy! that was offensive and derogatory towards POTS Syndrome patients, as well as giving you some general info on what POTS actually is! I am not someone with POTS, but I will never stand back and let ableism in the media continue, especially in this way on a nationally televised game show. Hopefully this sets the record straight AND is educational! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! New episodes every Thursday!! Follow me on Instagram - @risforrarepodcast Article discussed - "'Jeopardy!' viewers upset over 'misogynistic', 'outdated' clue about a medical condition" Johns Hopkins Medicine on POTS Cleveland Clinic's article about POTS American Heart Association Journal on POTS Dysautonomia International: POTS National Institute on Neurological Disorders and Stroke Information on POTS American College of Cardiology: POTS Diagnosis and Treatment --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with a social media patient advocate, Gerry Langan! She has pulmonary hypertension, which is a blood pressure condition affecting the arteries in the lungs and heart, and has congestive heart failure. She is very transparent on her rare disease journey, her faith life, her journey as a mom, and everything in between. She and I talk about issues with finding healthcare specialists, how our Christian faith plays into our lives, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast! Follow Gerry Langan on Instagram - @_gllangan or www.instagram.com/_gllangan Visit Gerry's Personal Website - www.gerrylangan.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with an amazing woman named Emily Hall, who has hEDS (hypermobile Ehlers-Danlos Syndrome) and Lyme disease. She also struggles with diagnosed and undiagnosed conditions that affect her husband and her daughter. She helped create the Our Odyssey website as you see it today. She also works on the Center for Lyme Action Committee and is pushing for the passing of the Lymphedema Treatment Act. Emily and I discuss ableism, the double standards of having a personal assistant, what advocating a young age looked like for her, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! REMINDER: New episodes will be coming out on THURSDAYS from here on out! Follow me on Instagram - @risforrarepodcast Follow Emily Hall on Instagram - @emilyandthezebracrew Fulgent E-commerce Solutions - https://www.fulgentecom.com Our Odyssey - https://ourodyssey.org Center for Lyme Action - https://centerforlymeaction.org Lymphedema Treatment Act - https://lymphedematreatmentact.org --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Hello everyone, so this week's episode is just a general update on what's going on in my life! I have to schedule guests for the rest of this month, so I wanted to give you all a quick update on my life right now and the things I want to work on for this platform! Hope you enjoy! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to follow me on Instagram @risforrarepodcast (especially since I'll be doing a lot more on there this summer)! For vaccine info: https://www.cdc.gov/coronavirus/2019-ncov/index.html --- Send in a voice message: https://anchor.fm/annie-watson/message

Today's interview is with an amazing woman named Aella Askew! She is a retired circus performer (I'm not even kidding, she was in the circus), and was recently diagnosed with hEDS, or hypermobile Ehlers-Danlos Syndrome. According to The Ehlers-Danlos Society, EDS are "a group of hereditary disorders of connective tissues." There are 14 types of EDS, 13 of which are linked to genetic markers. Aella and I talk about her circus days, the dumb things doctors say via medical gaslighting, and much more! I know this is another longer episode, but Aella's story is a great portrait for what the everyday, American rare disease patient goes through, especially since rare disease treatments are so expensive when they shouldn't be. Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to follow me on Instagram @risforrarepodcast! Follow Aella Askew on Instagram - @being.askew The Ehlers-Danlos Society - https://www.ehlers-danlos.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with the first married couple on R is for Rare, Sam and Katlyn Ferguson! Sam and Katlyn are high school sweethearts from outside of Houston, TX, and Sam was diagnosed with Friedreich's Ataxia, or FA, when he was 3. FA is a rare, neurodegenerative movement disorder, and has a whole host of symptoms. It is a progressive rare disease as well; for example, in recent years, Sam's eyesight has worsened. Sam, Katlyn and I discuss wheelchair accessibility, issues with Medicaid and Social Security Disability, marriage with rare diseases, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And follow me on Instagram @risforrarepodcast! Sam and Katlyn's Youtube Channel - https://www.youtube.com/channel/UC2FcicIVRu-dUOn7H3UhsEw Follow Sam and Katlyn on Instagram - @life_with_sam_and_katlyn --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with my very first international guest, Jess Clough! She is an Aussie from Newcastle (just north of Sydney), and she has Functional Neurological Disorder, or FND. FND is a rare disease that basically results in a faulty nervous system (as Jess puts it in the episode). The NORD's page on FND is linked below, and they define FND much more eloquently than I can! Jess and I talk about mental health, medical gaslighting (a term that was new to me during this episode), why Freudian psychology needs to be revisited and not glorified, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And let me know what you think of the show by leaving a review!! Follow me on Instagram - @risforrarepodcast Follow Jess Clough on Instagram - @functionallyjess FND Australia Support Services - https://fndaus.org.au Functional Neurological Disorder: A Patient's Guide - http://neurosymptoms.org NORD's Rare Disease Database: FND - https://rarediseases.org/rare-diseases/fnd/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with Noah Victoria, a 24-year-old rare disease patient who is in the process of self-publishing her first poetry book! Noah has abetalipoproteinemia, (also "abeta" or "ABL") is a rare, genetic condition where your body's ability to absorb fat and fat-soluble vitamins is impaired. We talk about therapy and the stigma around getting help (fitting since May is Mental Health Awareness Month), how our Catholic faith has shaped our rare disease journeys, what we wish people knew about rare diseases, and much much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to leave a review letting me know your thoughts on the show! Follow me on Instagram - @risforrarepodcast Noah's Blog - http://unmeasurablegirl.com/ Noah's Blog post with NIH - https://irp.nih.gov/blog/post/2020/02/irp-clinical-trials-provide-irreplaceable-hope Noah's article and video with Children's Inn - https://childrensinn.org/stories/noah/ Noah's article on the Washington Post - https://www.washingtonpost.com/local/she-was-asked-to-speak-about-her-two-ultrarare-diseases-she-did-while-also-telling-of-a-rare-place/2020/02/28/1e811912-5a4e-11ea-ab68-101ecfec2532_story.html Noah's blog on Our Odyssey - https://ourodyssey.org/our-odyssey-spotlight/noahlies?fbclid=IwAR0M-GI1JrI5YEdFzZNoUtEVp1w3xAM3DOa8agvZGNE80YTUAnunNTol5lc Noah's article with NORD - https://rarediseases.org/noah-victoria-2016-rare-impact-award-honoree/?fbclid=IwAR3tKMG2BxoQgr3KJBT1f19PsNYrZPQmUtg7lkViaOlgXDFJ_t7NzvtkSl4 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Today's bonus episode is going to be my honest, unadulterated review of the documentary "Crip Camp", which was recently nominated for an Oscar for Best Documentary Film Feature! This documentary covers the story of teens who attended Camp Jened -- a summer camp for teens with disabilities -- in 1971, and how the relationships made at this camp led to them uniting for their rights in the '70s, '80s, and '90s. Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And leave a review to let me know what you think! Follow me on Instagram -- @risforrarepodcast Links on Crip Camp: https://cripcamp.com https://www.nytimes.com/2020/03/24/movies/crip-camp-review.html https://www.nbcnews.com/think/opinion/netflix-s-crip-camp-one-most-important-films-about-disability-ncna1176456 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Today's interview is with Grace North, who is currently getting her bachelor's in Arts, Creativity, and Learning, and takes care of her siblings with disabilities! Grace has Premenstrual Dysphoric Disorder, which is a severe neuroendocrine disorder where my body is overly sensitive to its own hormones and affects around 3-8% of women globally. Grace also has chronic PTSD due to traumatic experiences from her youth. We discussed what it means to identify as disabled, ableism and racism, the issue of institutionalization and group homes, and much much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Follow me on Instagram - @risforrarepodcast Grace North - gracealehah@gmail.com What is PMDD? - https://iapmd.org/about-pmdd Joint Hypermobility (not covered in the episode, but she does have it) - https://www.ehlers-danlos.com/what-is-hsd/ Complex Post traumatic Stress Disorder (PTSD) - https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5862650/ --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with executive producer and author Danny Jordan, who has worked on shows like The Biggest Loser and Extreme Makeover: Home Edition and recently published his first book in The Capables series called Rae's First Day! His book series is about kids with disabilities who are superheroes, and their powers are brought on by the empowerment of others. Danny's daughter, Emerson, was the inspiration for this first book because she was diagnosed with a congenital limb difference before she was born, so she now has only a few fingers on her right arm. Danny and I talk about how to tell stories about those with disabilities, mindless scrolling and sharing, the impact Emerson has on him, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Follow me on Instagram - @risforrarepodcast Pre-Order The Capables - https://www.thecapables.com/shop Order on Amazon - https://www.amazon.com/Raes-First-Day-Story-Capables/dp/1736458019/ref=sr_1_1?dchild=1&keywords=Rae%27s+first+day&qid=1618365083&sr=8-1 Follow The Capables on Twitter, Instagram, and Facebook - @thecapables Follow Danny on Instagram - @dannyjordan --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with an amazing, funny, and fascinating woman named Jen Roman! Jen is a rare disease patient whose life as an EMT was turned upside down, and since then, she has become well acquainted with spinal taps, brain surgeries, and unknown problems. Jen was diagnosed with Idiopathic Intracranial Hypertension, or IIH, which is a rare disease caused by an overproduction of cerebrospinal fluid. However, Jen's life is still full of unknowns because she has yet to pinpoint what caused her IIH. She and I talk about struggles of rare disease life, how a scientific occupation can change your perspective on diagnosis, and more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Follow Jen Roman on Instagram - @kylo_jen_94 Jen's spotlight blog post on Our Odyssey - https://ourodyssey.org/our-odyssey-spotlight/jentruth Follow me on Instagram - @risforrarepodcast Questions? Email me at risforrarepodcast@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's episode features Ashley Pesi, a social worker at the HDSA National Youth Alliance, a PhD student, a mom, and a rare disease patient! Both she and her mom have Huntington's Disease, which is a genetic, neurodegenerative disease that is said to be a combination of ALS, Alzheimer's, and Parkinson's. Ashley discusses the reality of never really accepting a diagnosis, the welcoming embrace of the HD community, her and her mom's diagnosis stories, family planning, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Leave a review letting me know what you think about the podcast, and share the podcast on social media (you can post episodes from Spotify to your Instagram story)! Huntington's Disease Society of America - https://hdsa.org HDSA's National Youth Alliance - http://nya.hdsa.org Follow me on Instagram - @risforrarepodcast --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Today's interview is with Lindsay Passodelis, who has a rare disease called CLOVES Syndrome (Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/Skeletal anomalies and/or Scoliosis), and works at an outpatient transplant center in Pittsburgh as a social worker. She is also a blogger, an ambassador for Allstripes, and is on the CLOVES Family Advisory Council, so she basically lives to advocate! She talks about the specifics of her case, how a physical rare condition affects body image, how important support systems are in a rare disease journey, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Share the podcast on social media (can post from Spotify to your Instagram story), and leave a review and let me know what you think of the podcast! Follow Lindsay on Instagram - @lindsayy_lovie Lindsay's blog - peaceloveheal.org CLOVES Syndrome Community - https://clovessyndrome.org --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with young adult Jemma-Tiffany Rosewater, who has a rare disease called hyperacusis with pain, which is a disease where everyday noises cause severe pain. She describes the science behind hyperacusis, her struggle with finding proper treatment and schooling accomodations, and much more! ****TW: She briefly mentions suicide as a part of her story -- 24:48 to 25:50***** Hyperacusis Research Limited - https://hyperacusisresearch.org Jemma-Tiffany's Blog - https://hyperacusisawareness.wordpress.com Clinical Advancements for Managing Hyperacusis with Pain - https://journals.lww.com/thehearingjournal/Pages/articleviewer.aspx?year=2019&issue=10000&article=00004&type=Fulltext Unravelling the Mastery of Hyperacusis with Pain - https://www.entandaudiologynews.com/features/audiology-features/post/unravelling-the-mystery-of-hyperacusis-with-pain Auditory Nociception and Pain Hyperacusis Symposium - http://hyperacusisresearch.org/2016-aro-symposium-pain-hyperacusis/ Effect of Tinnitus Retraining Therapy vs. Standard of Care on Tinnitus-Related Quality of Life - https://jamanetwork.com/journals/jamaotolaryngology/article-abstract/2734346 Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Leave a review, and follow me on Instagram @risforrarepodcast! Questions? Email me - risforrarepodcast@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Today's bonus episode is all about Rare Disease Day, which is celebrated on the last day of February each year! So, Happy Rare Disease Day! I go through the history of this special day, what some organizations are doing to celebrate, and how you can participate in this amazing day! Share your story on social media with #RareDiseaseDay and #WearYourStripes! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And be sure to leave a review and let me know what you think of the podcast! Follow me on Instagram: @risforrarepodcast Questions? Email me - risforrarepodcast@gmail.com Anything mentioned in the episode / Resources used in the research for this episode: National Organization for Rare Disorders (NORD) - https://rarediseases.org NORD's Rare Disease Database - https://rarediseases.org/for-patients-and-families/information-resources/rare-disease-information/ EURORDIS (the NORD's sister organization based in Europe) - https://www.eurordis.org Rare Disease Day website - https://www.rarediseaseday.org Rare Disease Day at the National Institute of Health (NIH) - https://ncats.nih.gov/news/events/rdd Narcolepsy Network - https://narcolepsynetwork.org Our Odyssey - https://ourodyssey.org Global Genes - https://globalgenes.org EveryLife Foundation - https://everylifefoundation.org Huntington's Disease Society of America - https://hdsa.org AllStripes - https://www.allstripes.com The Boomer Esiason Foundation - https://www.esiason.org The Ehlers-Danlos Society - https://www.ehlers-danlos.com Individuals with Disabilities Education Act (IDEA) - https://sites.ed.gov/idea/ Americans with Disabilities Act (ADA) - https://www.dol.gov/general/topic/disability/ada Orphan Drug Act - https://www.fda.gov/industry/designating-orphan-product-drugs-and-biological-products/orphan-drug-act-relevant-excerpts --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with Allison Bartlett, who works as the manager of disability programs at Huntington's Disease Society of America (or HDSA) and is a disability attorney. She goes through the same step-by-step process of applying for Social Security disability that she goes through with her clients, as well as elaborating on the legal challenges that loved ones face with HD. We also discuss the importance of advocacy, both for yourself and in regards to pushing for legislatures! Huntington's Disease Society of America — hdsa.org Huntington's Disease Parity Act — hdsa.org/takeaction Genetic Information Nondiscrimination Act of 2008 (GINA) — https://www.congress.gov/bill/110th-congress/house-bill/493 Difference between Medicare and Medicaid — https://www.hhs.gov/answers/medicare-and-medicaid/what-is-the-difference-between-medicare-medicaid/index.html Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, Overcast, or wherever you get your podcasts! Leave a review to let me know what you think of the podcast! Follow me on Instagram - @risforrarepodcast Questions? Want to be on the podcast? Email me - risforrarepodcast@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

This week's interview is with pediatric sleep specialist Dr. Darius Loghmanee, who works with children at Advocate Aurora Health in Chicago. Dr. Loghmanee and I discuss the types of sleep disorders he sees regularly, the connections between narcolepsy and insomnia, how caffeine works (that is not a joke, he actually taught me how it works!), and much more! Darius Loghmanee, M.D. -- https://care.advocatehealth.com/doctors/darius-a-loghmanee-park-ridge-sleep-medicine Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! And let me know what you think of the podcast by leaving a review! Follow me on Instagram! @risforrarepodcast Questions? Email me -- risforrarepodcast@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

In today's episode, I'll be talking about what Alagille Syndrome (or ALGS) is AND talking with an ALGS patient, Anna Laurent! Anna is a young adult who lives for rare disease advocacy. She is the Head of Programs and Initiatives at Our Odyssey, a non-profit organization created to provide the community needed for young adults affected by rare diseases. We talk about her story with ALGS, the awkwardness of middle school with a rare disease, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Check out Our Odyssey: https://ourodyssey.org/ Sign Up for virtual meet-ups through Our Odyssey: https://ourodyssey.org/virtual-meet-ups Follow Anna Laurent on social media: @lilannalaurent ~ NEW!! ~ Send me an audio message! --- https://anchor.fm/annie-watson/message Email me - risforrarepodcast@gmail.com --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

In today's episode of R is for Rare, I'm interviewing my good friend Grant Bonebrake, who has a rare genetic kidney disease called Alport Syndrome. We talk about what his life has been like leading up to and since his diagnosis, why he loves to advocate, how great the rare disease community is, and much more! Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! Leave a review to let me know your thoughts, and share the podcast on social media! Find Grant Bonebrake on Instagram — @grant_bonebrake Support the Alport Syndrome Foundation — https://www.alportsyndrome.org YARR — https://everylifefoundation.org/young-adult-representatives/yarr-leadership-academy/#toggle-id-4 National Kidney Foundation — https://www.kidney.org Living Donor Protection Act — https://www.congress.gov/bill/116th-congress/house-bill/1224?s=1&r=1 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

In today's episode, I'm interviewing my friend Caroline Arnette, who is a fellow narcoleptic! We'll be discussing what it was like to be diagnosed in high school, the nuances of her specific case, how college in a pandemic has affected her narcolepsy, and much more! If you enjoy learning about rare diseases and you want more, be sure to subscribe to R is for Rare wherever you get your podcasts! Also be sure to share this podcast on social media and leave a review! Caroline Arnette: @narcoleptic_advocate on IG Narcolepsy Network Youth Ambassadors: https://narcolepsynetwork.org/get-involved/youth-ambassador-program/ Rare Disease Legislative Advocates (RDLA): https://rareadvocates.org --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

In today's episode, I will be talking about narcolepsy, a rare sleep disorder, and share how narcolepsy has affected my life since 2009. I will be talking about what narcolepsy is, what causes it, how it is diagnosed, as well as what my life was like leading up to and following my diagnosis in April 2010. If you want to hear more about rare diseases, subscribe to R is for Rare wherever you get your podcasts, and be sure to leave a review and share this podcast on social media! Sources used for this episode: National Institute of Neurological Disorders and Stroke from the National Institute of Health - https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Narcolepsy-Fact-Sheet Narcolepsy Fast Facts from Narcolepsy Network - https://narcolepsynetwork.org/about-narcolepsy/narcolepsy-fast-facts/ Wake Up Narcolepsy - https://www.wakeupnarcolepsy.org Narcolepsy Diagnosis from Wake Up Narcolepsy - https://www.wakeupnarcolepsy.org/about/diagnosis/ Treatments for Narcolepsy - https://www.mayoclinic.org/diseases-conditions/narcolepsy/diagnosis-treatment/drc-20375503 --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message

Hello everyone! Welcome to R is for Rare, your go-to podcast for learning the ins and outs of what life is like with rare diseases and disabilities. Be sure to subscribe to R is for Rare on Apple Podcasts, Spotify, or wherever you get your podcasts! --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app --- Send in a voice message: https://anchor.fm/annie-watson/message